Children may present with jaundice and recover completely or progress to cirrhosisCirrhosis is a condition (not a disease) that results from permanent damage or scarring of the liver. Source: Canadian Liver Foundation. In adults, liver disease is often undetected until cirrhosisCirrhosis is a condition (not a disease) that results from permanent damage or scarring of the liver. Source: Canadian Liver Foundation or hepatocellular carcinoma are evident.
National Center for Biotechnology Information – Liver Test Results Do Not Identify Liver Disease in Adults with α-1 Antitrypsin Deficiency – Published online 2012 Jul 24
The reported variation in onset and severity of hepatocyte damage also suggests other genetic and environmental factors modify an individuals’ risk of developing liver disease.
National Center for Biotechnology Information – Liver Test Results Do Not Identify Liver Disease in Adults with α-1 Antitrypsin Deficiency – Published online 2012 Jul 24
…those at highest risk to be the most severely liver affected have metabolic syndrome or some components of metabolic syndrome (diabetes, obesity, belly fat, hypertension, etc.) Those things make your Alpha worse.
Alpha-1 Antitrypsin Deficiency 101; Liver Disease (37min video – 36 minute mark) – Virginia Clark, MD Associate Program Director, Transplant Hepatology Fellowship Assistant Professor of Medicine, Division of Gastroenterology, Hepatology and Nutrition, University of Florida
Of newborns and children who have two defective AATalpha-1 antitrypsin genes, such as ZZ, about 1 in 20 will, in their first year, develop liver disease that may be serious. Other children may have abnormal liver blood tests and few symptoms of liver disease. In most cases, the liver abnormalities resolve by the time the child reaches their teens and many ZZ children remain completely healthy. Adults with Alpha-1 can also develop liver disease, which often becomes more severe in middle age and beyond.
CirrhosisCirrhosis is a condition (not a disease) that results from permanent damage or scarring of the liver. Source: Canadian Liver Foundation, or scarring of the liver, is the most common liver disease in adults related to Alpha-1. The risk of chronicA condition or illness that arises slowly over days or weeks and may or may not resolve with treatment. It is the opposite of acute. disease in MZ carriersAn Alpha-1 Carrier is a person who has one normal ATT gene (M) and one defective AAT gene (usually S or Z). It does NOT mean you cannot get sick. is much less than that of people with Alpha-1. Research suggests that chronicA condition or illness that arises slowly over days or weeks and may or may not resolve with treatment. It is the opposite of acute. liver disease might appear in MZ carriersAn Alpha-1 Carrier is a person who has one normal ATT gene (M) and one defective AAT gene (usually S or Z). It does NOT mean you cannot get sick. only when the liver has been damaged first by something else. Things that could harm the liver are a virus, such as hepatitis B or C, or a chemical such as alcohol. There is no scientific evidence that carriersAn Alpha-1 Carrier is a person who has one normal ATT gene (M) and one defective AAT gene (usually S or Z). It does NOT mean you cannot get sick. with the MS genes are at increased risk for liver disease.
The Liver and Alpha-1 – Alpha-1 Foundation